摘要
目的:对广西地区各族人群地中海贫血基因(地贫基因)进行检测,统计并分析该地区地贫基因类型、民族及地域性的特性。方法:采用Gap-PCR法与PCR探针法对广西地区8 960例受检者进行检测,统计并记录受检者地贫基因类型,分析各基因型的民族及地域分布特性。结果:(1)8 960例受检者中检出地贫基因共1 666例,占18.6%。其中908例为α缺失型地贫基因,占54.5%;79例为α非缺失型地贫基因,占4.7%;535例为β地贫基因,占32.1%;另外有复合型地贫基因共144例,占8.6%。(2)α缺失型地贫基因中,以--SEA、-3.7、-4.2为常见,分别占53.2%、31.9%、7.9%,其他罕见占7.0%;α非缺失型地贫基因中以αα/αwsα最多,αα/αcsα次之。(3)β地贫基因中检出12种常见基因类型,占98.5%;7种罕见基因,占1.5%。(4)复合型地贫基因中检出14种常见基因类型,占93.8%;7种罕见基因,占6.2%。(5)检出地贫基因中壮族共826例,汉族765例,瑶族33例,苗族21例,其他族21例。壮族与汉族检出率相当,但差异无统计学意义,壮族、汉族分别与瑶族、苗族、其他族两两比较,差异有统计学意义(P<0.05)。(6)检出地贫基因中南宁市占比最高(53.4%),其次为百色市(10.1%),其他城市均在10%以下,以北部湾地区(北海市、防城港市、钦州市)占比最低。结论:广西地区为地贫基因高发区,而且缺失型地贫基因多于非缺失型地贫基因。地贫基因检出者中以中西部、中南部区域为多,壮族检出率最高,汉族次之,其他种族略少。
Objective：To detect the ethnic population in Guangxi with thalassemia gene reagent,and to analyze statistical of thalassemia gene types,the region characteristics of national and regional.Method：A total of 8 960 subjects in Guangxi area were detected with Gap-PCR and PCR probe methods.Thalassemia genes in national and regional distribution characteristics of each genotype were analyzed.Result：（1）A total of 1 666 Mediterranean gene anemia genes were detected in 8 960 subjects（18.6%）;908 cases（54.5%）wereα-thalassemia gene deletion,79 cases（4.7%）were non-deletion typeα-thalassemia gene,535 cases（32.1%）wereβ-thalassemia gene deletion,and144 cases（8.6%）were the composite type of thalassemia gene deletion.（2）--SEA,-3.7,-4.2 accounted for53.2%,31.9%,7.9% and other rare gene accounted for 7.0%inα-thalassemia gene deletion.αα/αwsαaccounted for the most,followed byαα/αcsαin non-deletion typeαthalassemia gene.（3）There were 12 kinds of common genetic types（98.5%）and 7 kinds of rare genes（1.5%）inβ-thalassemia gene detection.（4）There were 14 kinds of common genetic types（93.8%）and 7 kinds of rare genes（6.2%）in the composite type of thalassemia gene deletion.（5）There were 826 cases of Zhuang nationality,765 cases of Han nationality,33 cases of Yao nationality,21 cases of Miao nationality and 21 cases of other ethnic groups in the detection of thalassemia gene.The detection rates of Zhuang nationality and Han nationality had no statistical significance,and there had statistical significance in Zhuang nationality,Han nationality and other all ethnic groups（P〈0.05）.（6）The highest proportion of thalassemia genes was detected in Nanning（53.4%）,followed by Baise（10.1%）.It was below 10%in other areas,and it was lowest proportion in Beibu Gulf region（Beihai,Fangchenggang and Qinzhou）.Conclusion：Guangxi is a region with high incidence of thalassemia gene,and the deletion type is more than non-deletion type.The Midwest region and the South Central region are the main areas for the deletion of the thalassemia gene.Zhuang nationality has the highest detection rate of the thalassemia gene,Han nationality follows and other nationalities are less.
作者
梁亮
陈治中
谭春燕
周莹
LIANG Liang;CHEN Zhizhong;TAN Chunyan;ZHOUYing(Clinical Laboratory of the C-uangxi Zhuang Autonomous Region People＇s Hospital,Nanning,530021,China)
出处
《临床血液学杂志》
CAS
2018年第5期696-699,共4页
Journal of Clinical Hematology
